MYOCILIN

Role in the organism:

Myocilin protein is synthesized in a variety of muscle types, including cardiac (smooth) tissue, skeletal muscle, and the ciliary body of the eyeball. It regulates fluid levels in the eye. Although the exact mechanism is unknown, myocillin is thought to play a role in controlling the pressure of the eye chamber.

Role in the disorder (state):

Mutations in the MYOC gene lead to the most common form of glaucoma, known as open-angle glaucoma. The disease affects millions of people worldwide, although myocilin deficiency accounts for only 3-5% of cases (there are many other causes). Loss of myocilin can lead to an increase in eye pressure behind the lens in the eye chamber.